OMIA:002140-9615 : Exercise induced metabolic myopathy in Canis lupus familiaris
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 201475 (trait) , 609575 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2018
Cross-species summary: (EIMM)
History: Lepori et al. (2018): "To our knowledge, this is the first description of this disease in dogs, which we propose to name exercise induced metabolic myopathy (EIMM), and the identification of the first canine pathogenic ACADVL variant. Our findings provide a large animal model for a known human disease and will enable genetic testing to avoid the unintentional breeding of affected offspring."
Molecular basis: Lepori et al. (2018): "Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the [comparative functional candidate] ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C>A or p.(Tyr576*). The variant showed perfect association with the phenotype in the 10 affected and more than 500 control dogs of various breeds."
Clinical features: Lepori et al. (2018): Clinical signs included "exercise induced weakness, muscle pain, and suspected rhabdomyolysis". Affected dogs have elevated serum creatine kinase (CK) and alanine aminotransferase (ALT) activities. An acylcarnitine profile from blood revealed an elevated tetradecenoylcarnitine (C14:1) peak suggesting the diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD).
Pathology: Lepori et al. (2018): "Muscle samples harvested from the affected German Hunting Terriers ... revealed a mild to moderate necrotizing myopathy with enrichment of interfibrillar lipid droplets and mitochondrial abnormalities. Changes were widely spread and more prominent in type 2 fibers. Nerve biopsies ... were unremarkable."
Breed: German Hunting Terrier.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ACADVL||acyl-CoA dehydrogenase, very long chain||Canis lupus familiaris||5||NC_051809.1 (32294698..32299874)||ACADVL||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|972||German Hunting Terrier||Exercise induced metabolic myopathy||ACADVL||nonsense (stop-gain)||Naturally occurring variant||CanFam3.1||5||g.32193689C>A||c.1728C>A||p.(Y576*)||XM_546581.5; XP_546581.3||2018||29491033|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2019||Mühlhause, F., Tipold, A., Rohn, K., Lepori, V., Leeb, T., Sewell, A.C., Kornberg, M. :|
|Verlaufsuntersuchungen bei Deutschen Jagdterriern mit belastungsabhängiger metabolischer Myopathie [Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. Tierarztl Prax Ausg K Kleintiere Heimtiere 47:402-410, 2019. Pubmed reference: 31814088 . DOI: 10.1055/a-1027-2533.|
|2018||Lepori, V., Mühlhause, F., Sewell, A.C., Jagannathan, V., Janzen, N., Rosati, M., Maximiano Alves de Sousa, F.M., Tschopp, A., Schüpbach, G., Matiasek, K., Tipold, A., Leeb, T., Kornberg, M., Lepori, V., Mühlhause, F., Sewell, A.C., Jagannathan, V., Janzen, N., Rosati, M., Alves de Sousa, F.M.M., Tschopp, A., Schüpbach, G., Matiasek, K., Tipold, A., Leeb, T., Kornberg, M. :|
|A nonsense variant in the ACADVL gene in German Hunting Terriers with exercise induced metabolic myopathy. G3 (Bethesda) 8:1545-1554, 2018. Pubmed reference: 29491033 . DOI: 10.1534/g3.118.200084.|
- Changed by Tosso Leeb on 05 Mar 2018
- Created by Frank Nicholas on 05 Mar 2018
- Changed by Frank Nicholas on 05 Mar 2018